March 23, 2011 at 7:31 pm
Thanks for your reply Goodney,
If we can get even one victim to avoid the dismay, 4 or more years later, of the ‘wrong’ diagnosis, then it’s all worthwhile.
I prefer to collect all my own records. They come in handy occasionally, even if it’s only to remind me what testing I’ve already had.
Brings up another rhetorical question- Do you even wanna know you have a genetic condition? Nothing you can do about it. I’ve learned I want a definitive diagnosis, and a correct one.
Genetic Problem? Yeah, now you gotta deal with it, as in get genetic counseling. Think family, siblings, kids, grand kids, insurance issues etc.